Romano-Ward syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Romano-Ward long QT syndrome
Number of Symptoms 15
OrphanetNr: 101016
OMIM Id: 192500
600919
603830
611818
611819
611820
612955
613485
613688
613693
613695
ICD-10: I45.8
UMLs: C0035828
MeSH: D029597
MedDRA: 10039211
Snomed: 20852007

Prevalence, inheritance and age of onset:

Prevalence: < 50 of 100 000
Inheritance: Autosomal dominant
21907427 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial long QT syndrome
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Romano-Ward syndrome is a sub-type of familial long QT syndrome. It has an exclusively cardiac phenotype and is the most prevalent heritable LQTS (PMID:21907427). Affected persons generally have milder symptoms (PMID:9164812).

Symptom Information: Sort by abundance 

1
(HPO:0005135) EKG: T-wave abnormalities 3812233 IBIS 19 / 7739
2
(HPO:0012266) T-wave alternans 7211678 IBIS 8 / 7739
3
(HPO:0001657) Prolonged QT interval Very frequent [IBIS] 9164812 IBIS 33 / 7739
4
(HPO:0001662) Bradycardia 8551477 IBIS 41 / 7739
5
(HPO:0001692) Primary atrial arrhythmia 19017345 IBIS 16 / 7739
6
(HPO:0004756) Ventricular tachycardia 15875139 IBIS 55 / 7739
7
(HPO:0004308) Ventricular arrhythmia 15875139 IBIS 46 / 7739
8
(HPO:0001664) Torsade de pointes 15875139 IBIS 15 / 7739
9
(HPO:0001663) Ventricular fibrillation 15875139 IBIS 35 / 7739
10
(HPO:0001678) Atrioventricular block 7211678 IBIS 59 / 7739
11
(HPO:0001695) Cardiac arrest 9164812 IBIS 87 / 7739
12
(HPO:0001645) Sudden cardiac death Rare [IBIS] 4% (n=131) 3449505 IBIS 84 / 7739
13
(HPO:0001279) Syncope Occasional [IBIS] 11% (n=131) 3449505 IBIS 94 / 7739
14
(HPO:0001250) Seizures 9164812 IBIS 1245 / 7739
15
(HPO:0011097) Epileptic spasms 1436449 IBIS 45 / 7739

Associated genes:

KCNQ1; KCNH2; SCN5A; ANK2; KCNE1; KCNE2; CAV3; SCN4B; AKAP9; SNTA1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CALM2 rs398124647 likely pathogenic RCV000143837.1
CALM2 rs398124647 likely pathogenic RCV000143836.1
CALM2 rs398124648 likely pathogenic RCV000143838.1
CALM2 rs398124649 likely pathogenic RCV000143840.1
CALM2 rs398124650 likely pathogenic RCV000143839.1
KCNQ1 rs104894252 pathogenic RCV000003261.2
KCNQ1 rs120074177 pathogenic RCV000003260.2
KCNQ1 rs120074178 pathogenic RCV000003264.2
KCNQ1 rs120074179 pathogenic RCV000003265.2
KCNQ1 rs120074180 pathogenic RCV000003266.2
KCNQ1 rs120074181 pathogenic RCV000003262.2
KCNQ1 rs120074182 pathogenic RCV000003263.2
KCNQ1 rs120074183 pathogenic RCV000003270.2
KCNQ1 rs120074184 pathogenic RCV000003271.2
KCNQ1 rs120074185 pathogenic RCV000003274.2
KCNQ1 rs120074187 pathogenic RCV000003276.2
KCNQ1 rs120074190 pathogenic RCV000003288.2
KCNQ1 rs120074191 pathogenic RCV000003290.3
KCNQ1 rs120074193 pathogenic RCV000003294.2
KCNQ1 rs120074194 pathogenic RCV000003295.2
KCNQ1 rs12720459 pathogenic RCV000003267.2
KCNQ1 rs12720459 pathogenic RCV000003269.2
KCNQ1 rs151344631 pathogenic RCV000030815.2
KCNQ1 rs17221854 pathogenic RCV000003291.2
KCNQ1 rs1800171 pathogenic RCV000003283.2
KCNQ1 rs199472709 pathogenic RCV000115008.2
KCNQ1 rs199472776 likely pathogenic RCV000203070.1
KCNQ1 rs199473480 pathogenic RCV000174453.1
KCNQ1 rs267607197 pathogenic RCV000003296.2
KCNQ1 rs387906290 pathogenic RCV000003282.2
KCNQ1 rs397508105 pathogenic RCV000003284.3
KCNQ1 rs397508115 pathogenic RCV000003297.2
KCNQ1 rs587776555 pathogenic RCV000003278.2
KCNQ1 rs794728583 pathogenic RCV000193564.1

Additional Information: